This variant was identified in a population screening of patients with primary sclerosing cholangitis and inflammatory bowel syndromes. The novel variant c.3139+193_c.3139+198delTAAT was found in the same individual.
To check if there are any papers published about this mutation/variant on PubMed, please click here.
Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011